Increased salinity and groundwater levels lead to degradation of the Robinia pseudoacacia forest in the Yellow River Delta

Forest degradation is a worldwide problem,although its causes vary due to geographical and climatic differences and man-made causes.In recent years,the Robinia pseudoacacia forest in the Yellow River Delta has suffered severe degradation.The causative mechanisms were investigated in the field over two years,and the results show that increased forest degradation was reflected by increased tree mortality,high leaf and soil sodium salt levels and groundwater depth.Average tree diameters decreased,and leaf chlorophyll and soil microbial contents decreased.Redundancy discriminate analysis(RDA)showed that degradation of the forest was correlated positively with soil salt content,but negatively with groundwater depth.Correlation analysis showed that 0.79%–0.95%soil salt content and above 1.20 m groundwater depth caused the death of R.pseudoacacia trees due to localized anthropogenic economic activities,such as rice farming,that disrupted the original water–salt balance.Measures are recommended to prevent further degradation and restore degraded forests.

A novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene caused Liddle syndrome

Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Background and Objective Desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar myopathy.In terms of its mode of inheritance,the autosomal dominant form is predominant.Desmin gene(DES)mutations play a critical role among the pathogenic inherited factors associated with desminopathy.Desminopathy involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy and arrhythmia.The purposes of this study are characterization of a novel phenotype and identification of a DES splicing mutation in a Chinese family with desminnopathy.

The genome of the recretohalophyte Limonium bicolor provides insights into salt gland development and salinity adaptation during terrestrial evolution

Halophytes have evolved specialized strategies to cope with high salinity.The extreme halophyte sea lavender(Limonium bicolor)lacks trichomes but possesses salt glands on its epidermis that can excrete harmful ions,such as sodium,to avoid salt damage.Here,we report a high-quality,2.92-Gb,chromosome-scale L.bicolor genome assembly based on a combination of Illumina short reads,single-molecule,real-time long reads,chromosome conformation capture(Hi-C)data,and Bionano genome maps,greatly enriching the genomic information on recretohalophytes with multicellular salt glands.Although the L.bicolor genome contains genes that show similarity to trichome fate genes from Arabidopsis thaliana,it lacks homologs of the decision fate genes GLABRA3,ENHANCER OF GLABRA3,GLABRA2,TRANSPARENT TESTA GLABRA2,and SIAMESE,providing a molecular explanation for the absence of trichomes in this species.We identified key genes(LbHLH and LbTTG1)controlling salt gland development among classical trichome homologous genes and confirmed their roles by showing that their mutations markedly disrupted salt gland initiation,salt secretion,and salt tolerance,thus offering genetic support for the long-standing hypothesis that salt glands and trichomes may share a common origin.In addition,a whole-genome duplication event occurred in the L.bicolor genome after its divergence from Tartary buckwheat and may have contributed to its adaptation to high salinity.The L.bicolor genome resource and genetic evidence reported in this study provide profound insights into plant salt tolerance mechanisms that may facilitate the engineering of salt-tolerant crops.

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%;97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1;four patients had TGFBR1/2 mutations;and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations.

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is caused by loss-of-function mutations in y-secretase component genes.We and other researchers showed that nicastrin (NCSTN) is the most frequently mutated gene in familial AI.In this study,we generated a keratin 5-Cre-driven epidermis-specific Ncstn conditional knockout mutant in mice.We determined that this mutant recapitulated the major phenotypes of AI,including hyperkeratosis of hair follicles and inflammation.In Ncstnflox/flox;K5-Cre mice,the IL-36a expression level markedly increased starting from postnatal day 0 (P0),and this increase occurred much earlier than those of TNF-α,IL-23A,IL-1 3,and TLR4.RNA-Seq analysis indicated that Sprr2d,a member of the small proline-rich protein 2 family,in the skin tissues of the Ncstnflox/flox,;K5-Cre mice was also upregulated on P0.Quantitative reverse-transcription polymerase chain reaction showed that other Sprr2 genes had a similar expression pattern.Our findings suggested that IL-36a might be a key inflammatory cytokine in the pathophysiology of AI and implicate malfunction of the skin barrier in the pathogenesis of AI.